Canonical Allele Identifier: CA3177238

Gene: TPPP CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.665243C>T , CM000667.2:g.665243C>T	GRCh38
NC_000005.9:g.665358C>T , CM000667.1:g.665358C>T	GRCh37
NC_000005.8:g.718358C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360578.7:c.519G>A (TPPP) MANE Select	ENSP00000353785.5:p.Thr173=
ENST00000360578.6:c.519G>A (TPPP)	ENSP00000353785.5:p.Thr173=
ENST00000514507.1:n.351C>T (CEP72)
NM_007030.2:c.519G>A (TPPP)	NP_008961.1:p.Thr173=
XM_005248237.2:c.519G>A (TPPP)	XP_005248294.2:p.Thr173=
XM_005248237.3:c.519G>A (TPPP)	XP_005248294.2:p.Thr173=
XM_017008993.1:c.720G>A (TPPP)	XP_016864482.1:p.Thr240=
XM_024454346.1:c.519G>A (TPPP)	XP_024310114.1:p.Thr173=
NM_007030.3:c.519G>A (TPPP) MANE Select	NP_008961.1:p.Thr173=
NR_164122.1:n.2512C>T (CEP72)